Dyskeratosis congenita and the DNA damage response

Ítems similars

• Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
  per: Vulliamy, Tom, et al.
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• TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
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• Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
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• Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
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• Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
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